P213: Exploring heterogeneity among gene lists proposed for newborn sequencing

Autor: Thomas Minten, Sophia Adelson, Laura Amendola, David Bick, François Boemer, Alison Coffey, Nicolas Encina, Bianca Russell, Laurent Servais, Kristen Sund, Ryan Taft, Robert Green, Nina Gold

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101110- (2024)

Externí odkaz: https://doaj.org/article/166dd47d6d89482494cd202938776769

P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition

Autor: Marina DiStefano, Fowzan Alkuraya, Joanna Amberger, Christina Austin-Tse, Ola Austine, Marie Balzotti, Jonathan Berg, Elspeth Bruford, Alicia Byrne, Elena Cibrian-Uhalte, Alison Coffey, Helen Firth, Ada Hamosh, Sarah Hunt, Teri Klein, Catherine Kurtz, Sarah Leigh, Ivone Leong, Caterina Lucano, Sateesh Maddirevula, Audrey O'Neill, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Julie Taylor, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, James Ware, Bess Wayburn, Phillip Weller, Heidi Rehm

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 101476- (2024)

Externí odkaz: https://doaj.org/article/fd7a496fb21447cda656ca8034d9483a

P420: Development of a comprehensive cardiovascular disease whole genome sequencing test

Autor: Laura Amendola, Alison Coffey, Samuel Strom, Akanchha Kesari, James Avecilla, Josh Lowry, Stetson Thacker, Julie Taylor, Kathryn Golden-Grant, Matt Brown, Becky Milewski, John Belmont, Denise Perry, Ryan Taft

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100467- (2023)

Externí odkaz: https://doaj.org/article/29e7c281859140328181f6ddd9c992a4

P471: Quad whole genome sequencing detects reciprocal copy number variants in affected siblings, consistent with familial translocation

Autor: Katie Golden-Grant, Amanda Buchanan, Alison Coffey, Yvonne Brew, Brittany Thomas, Akanchha Kesari, Denise Perry, Ryan Taft

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100518- (2023)

Externí odkaz: https://doaj.org/article/439e58841cf241f182101ef604f64bab

Genome-wide and fine-resolution association analysis of malaria in West Africa

Autor: Muminatou, Jallow, Yik Ying Teo, Small, Kerrin S., Rockett, Kirk A., Panos, Deloukas, Clark, Taane G., Katja, Kivinen, Bojang, Kalifa A., Conway, David J., Margaret, Pinder, Giorgio, Sirugo, Fatou Sisay Joof, Stanley, Usen, Sarah, Auburn, Bumpstead, Suzannah J., Susana, Campino, Alison, Coffey, Andrew, Dunham, Fry, Andrew E., Angela, Green, Rhian, Gwilliam, Hunt, Sarah E., Michael, Inouye, Jeffreys, Anna E., Alieu, Mendy, Aarno, Palotie, Simon, Potter, Jiannis, Ragoussis, Jane, Rogers, Kate, Rowlands, Elilan, Somaskantharajah, Pamela, Whittaker, Claire, Widden, Peter, Donnelly, Bryan, Howie, Jonathan, Marchini, Andrew, Morris, Miguel, Sanjoaquin, Eric Akum Achidi, Tsiri, Agbenyega, Angela, Allen, Olukemi, Amodu, Patrick, Corran, Abdoulaye, Djimde, Amagana, Dolo, Doumbo, Ogobara K., Chris, Drakeley, Sarah, Dunstan, Jennifer, Evans, Jeremy, Farrar, Hien Tt, Fernando D., Horstmann, R. D., Ibrahim, M., Karunaweera, N., Kokwaro, G., Koram, K. A., Lemnge, M., Makani, J., Marsh, K., Michon, P., David, Modiano, Molyneux, M. E., Mueller, I., Parker, M., Peshu, N., Plowe, C. V., Puijalon, O., Reeder, J., Reyburn, H., Riley, E. M., Sakuntabhai, A., Singhasivanon, P., Sirima, S., Tall, A., Taylor, T. E., Thera, M., Troye Blomberg, M., Williams, T. N., Wilson, M., Wellcome Trust Case Control Consortium Kwiatkowski, D. P., Epidemiology Network: Achidi, Malaria Genomic E. A., Agbenyega, T., Ahmad, T., Alcock, D., Allen, S., Amenga Etego, L., Amodu, O., Apinjoh, T. O., Attwood, A. P., Auburn, S., Ball, S. G., Balmforth, A. J., Ban, M., Barbour, J., Barnwell, D., Barrett, J. C., Barrett, J. H., Barton, A., Bentley, D., Bishop, D. T., Bojang, K., Boorman, J. P., Bougouma, E., Bradbury, L. A., Braga Marcano, C. A., Braund, P. S., Bredin, F., Breen, G., Brown, M. A., Brown, M. J., Bruce, I. N., Bryan, C., Bull, S., Bumpstead, S. J., Burke, B., Burton, P. R., Caesar, S., Campino, S., Cant, B., Cardin, N. J., Cardon, L. R., Carucci, D., Caulfield, M., Chaney, A., Clark, T., Clayton, D. G., Collier, D. A., Compston, A., Compston, D. A., Connell, J., Conway, D., Cook, K., Corran, P., Craddock, N., Cummings, F. R., Davison, D., Deloukas, P., Devries, J., Dewasurendra, R., Diakite, M., Dixon, R. J., Djimde, A., Dobson, R., Dolo, A., Dominiczak, A., Donnelly, P., Donovan, H., Doumbo, O., Downes, K., Doyle, A., Drakeley, C., Drummond, H., Duffy, P., Duncanson, A., Dunger, D. B., Dunstan, S., Duombo, O., Easton, D., Elkin, A., Elliott, K. S., Elzein, A., Enimil, A., Evans, D., Evans, J., Everson, U., Eyre, S., Farmer, A., Farrall, M., Farrar, C., Farrar, J., Fernando, D., Ferreira, T., Ferrier, I. N., Fisher, S. A., Fitzpatrick, K., Forbes, A., Franklyn, J. A., Fraser, C., Frayling, T. M., Freathy, R. M., Ghansah, A., Ghori, J., Gilbert, P. D., Gordon Smith, K., Goris, A., Gottlieb, M., Gough, S. C., Green, A., Green, E. K., Groves, C. J., Grozeva, D., Gungadoo, J., Gwilliam, R., Hall, A. S., Hallgrimsdóttir, I. B., Hamshere, M. L., Hart, L., Hattersley, A. T., Heward, J. M., Hider, S. L., Tran Tinh Hien, Hill, A. V., Hilton, E., Hinks, A. M., Hitman, G. A., Holmans, P. A., Horstmann, Rolf D., Howie, B. N., Hubbart, C., Hughes, C., Hunt, S. E., Hussein, A., Hussey, J. M., Muntaser, Ibrahim, Iles, M. M., Inouye, M., Ishengoma, D., Jallow, M., Jeffreys, A. E., Jewell, D. P., John, Sl, Jolley, J. D., Jones, I. R., Jones, L., Jones, R. W., Nadira, Karunaweera, Keniry, A., King, E., Kirov, G., Kivinen, K., Knight, A. S., Koch, K., Gilbert, Kokwaro, Koram, Kwadwo A., Lango, H., Lathrop, G. M., Lee, K. L., Lees, C. W., Martha, Lemnge, Leung, H. T., Lewis, C. M., Lin, E., Lindgren, C. M., Ly, A., Macinnis, B., Julie, Makani, Mangano, Valentina, Mangino, M., Manjurano, A., Manning, L., Mansfield, J. C., Manske, M., Maqbool, A., Marchini, J. L., Kevin, Marsh, Maslen, G., Mathew, C. G., Mcardle, W. L., Mccarthy, M. I., Mccreight, M., Mcginnis, R., Mcguffin, P., Meech, E., Mendy, A., Pascal, Michon, Mohiuddin, M. K., Molyneux, Malcolm E., Morris, A. P., Moskvina, V., Moyes, C., Ivo, Mueller, Munroe, P. B., Mutabingwa, T., Ndila, C. M., Newhouse, S. J., Newport, M., Nikolov, I., Nimmo, E. R., Nutland, S., Nyirongo, V., O'Donovan, M. C., Oluoch, T., Onipinla, A., Onnie, C. M., Ouwehand, W. H., Owen, M. J., Michael, Parker, Parkes, M., Pembrey, M., Pereira Gale, J., Perry, J. R., Norbert, Peshu, Plowe, Christopher V., Pointon, J. J., Potter, C., Potter, S., Prescott, N. J., Prowse, C. V., Odile, Puijalon, Quyen, N. T., Ragoussis, J., Rahman, N., Ravindrarajah, R., Rayner, N. W., John, Reeder, Hugh, Reyburn, Riley, Eleanor M., Ring, S. M., Risley, P., Rockett, K. A., Rogers, J., Rowlands, K., Anavaj, Sakuntabhai, Samani, N. J., Sanderson, J., Sanjoaquin, M., Satsangi, J., Sawcer, S. J., Seal, S., Shields, B. M., Silman, A. J., Simmonds, M. J., Pratap, Singhasivanon, Sodiomon, Sirima, Sirugo, G., Small, K. S., Somaskantharajah, E., Spencer, C. C., St Clair, D., Stevens, H. E., Stevens, M., Stevens, S., Strachan, D. P., Stratton, M. R., Su, Z., Suriyaphol, P., Symmons, D. P., Adama, Tall, Taylor, N. C., Taylor, Terrie E., Teo, Y., Teo, Y. Y., Mahamadou, Thera, Thompson, J. R., Thomson, W., Timpson, N. J., Tobin, M. D., Todd, J. A., Todhunter, C. E., Toure, O., Tremelling, M., Marita Troye Blomberg, Vanderwal, A., Vukcevic, D., Walker, M., Walker, N. M., Wallace, C., Walters, G. R., Walton, R., Watkins, N. A., Watson, R., Webster, J., Weedon, M. N., Whittaker, P., Widmer, B., Williams, Thomas N., Williamson, R., Michael, Wilson, Winzer, T., Withers, D., Wordsworth, P., Worthington, J., Wrigley, R., Xue, M., Young, A. H., Yuldasheva, N., Zeggini, E.

Publikováno v: Jallow, M, Teo, Y Y, Small, K S, Rockett, K A, Deloukas, P, Clark, T G, Kivinen, K, Bojang, K A, Conway, D J, Pinder, M, Sirugo, G, Sisay-Joof, F, Usen, S, Auburn, S, Bumpstead, S J, Campino, S, Coffey, A, Dunham, A, Fry, A E, Green, A, Gwilliam, R, Hunt, S E, Inouye, M, Jeffreys, A E, Mendy, A, Palotie, A, Potter, S, Ragoussis, J, Rogers, J, Rowlands, K, Somaskantharajah, E, Whittaker, P, Widden, C, Donnelly, P, Howie, B, Marchini, J, Morris, A, SanJoaquin, M, Achidi, E A, Agbenyega, T, Allen, A, Amodu, O, Corran, P, Djimde, A, Dolo, A, Doumbo, O K, Drakeley, C, Dunstan, S & Evans, J & Farrar, J 2009, ' Genome-wide and fine-resolution association analysis of malaria in West Africa ', Nature Genetics, vol. 41, no. 6, pp. 657-65 . https://doi.org/10.1038/ng.388

We report a genome-wide association (GWA) study of severe malaria in The Gambia. The initial GWA scan included 2,500 children genotyped on the Affymetrix 500K GeneChip, and a replication study included 3,400 children. We used this to examine the perf

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bcc10f19eaf89b5ee4b1f44636edbe3
https://doi.org/10.1038/ng.388